OBO ID: DOID:0080672 |
Term Name: | fibrochondrogenesis 1 | Search Ontology: | |
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Definition: | A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/21035103/ | ||
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Ontology: | Human Disease ( DOID:0080672 ) |
OTHER fibrochondrogenesis 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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